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48 results on '"Patry, L."'

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1. 28. Creation of a national in-training examination in radiation oncology: Impact evaluation

8. Ethics and the Compensation of Immigrant Workers for Work-Related Injuries and Illnesses.

13. A Case of Dilated Cardiomyopathy Associated With Chronic Toluene Exposure.

14. [Occupational medicine, witness to social evolution].

15. COVID-19 in Canada and the use of Personal Protective Equipment.

16. Multi-exposures to suspected endocrine disruptors in electronic waste recycling workers: Associations with thyroid and reproductive hormones.

17. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

18. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

19. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

20. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

21. De novo mutations in moderate or severe intellectual disability.

22. Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.

23. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.

24. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.

25. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

26. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

27. Bioinactive ACTH causing glucocorticoid deficiency.

28. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

29. Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.

30. Mutations in TMEM231 cause Joubert syndrome in French Canadians.

31. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

32. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

33. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

34. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

35. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

36. Absence of a differentiation defect in muscle satellite cells from DM2 patients.

37. [Catatonia de novo, report on a case: immediate vital prognosis and psychiatric prognosis in longer term].

38. Carpal tunnel syndrome: validation of an interview questionnaire on occupational exposure.

42. OHN certification.

43. Acute bacterial meningitis. The pathophysiological sequence of events.

45. Insulin therapy.

47. [Trial of Panectyl].

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